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FLASH GENE

Symbol

EVC2

contributors: npt/mct/pgu - updated : 24-09-2015

HGNC name	Ellis van Creveld syndrome 2 (limbin)
HGNC id	19747

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	EVC Ellis-van Creveld syndrome WAD Weyers acrofacial dysostosis
Location	4p16.2      Physical location : 5.564.146 - 5.711.275
Synonym name	limbin
Synonym symbol(s)	LBN

DNA

TYPE	functioning gene
SPECIAL FEATURE	head to head, opposite orientation
text	head to head with EVC
STRUCTURE	166.78 kb     22 Exon(s)

10 Kb 5' upstream gene genomic sequence study

regulatory sequence	Promoter
	Binding site   transcription factor
text structure	promoter common with EVC,binding sites for Sp1,AP2,myogenin ,CEBP

MAPPING

cloned

Y

linked

N

status

provisional

Map	pter - PPP2R2C - CRMP1 - EVC EVC - EVC2 - C4orf6 - MSX1 - cen
Authors	Takeda (02)

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_147127 22 - 4426 148 1308 - PMID: 19251731 NM_001166136 22 - 4864 - 1228 - PMID: 19251731

EXPRESSION

Type	restricted

expressed in	(based on citations)
organ(s)	System Organ level 1 Organ level 2 Organ level 3 Organ level 4 Level Pubmed Species Stage Rna symbol Cardiovascular heart         Urinary kidney

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Connective bone

cells

System Cell Pubmed Species Stage Rna symbol Skeleton osteoblast Skeleton osteoclast

cell lineage

cell lines

fluid/secretion

at STAGE

physiological period

embryo, fetal

Text	fore and hindlimb buds branchial arches, facial primordia (mouse) proliferating chondrocytes

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	N-terminal transmembrane domains
	regions of coiled-coil structure
	three nuclear localization signals (NLS)
	C-terminus of EVC2 regulates stability and localization of EVC and EVC2

HOMOLOGY

interspecies

ortholog to murine Lbn

Homologene

FAMILY

CATEGORY

unknown/unspecified

SUBCELLULAR LOCALIZATION	plasma membrane
	intracellular
	intracellular,cytoplasm,cytoskeleton,microtubule
text	localize to the basal bodies of primary cilia

basic FUNCTION	involved in bone formation, maybe coexpressed and coregulated with EVC
	with EVC, having function coordinately in cardiac development and loss of this coordinate function results in the characteristics of EVC syndrome
	essential component of IHH signaling in the growth plate
	endogenous EVC and EVC2 are mutually required for their translocation to cilia

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

text	bone development

PATHWAY

metabolism

signaling

a component

INTERACTION

DNA

RNA

small molecule

protein	EVC and EVC2 are mutually required for maintaining their protein levels and localization
	EVC/EVC2 complex interacts with SMO and is required for signal transduction events
	promotes recruitment of GLI3 to the tips of cilia
	EFCAB7 is a possible modifier gene in EVC and EVC2 and its related disorders

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

EVC , WAD

Susceptibility

Variant & Polymorphism

Candidate gene
Marker
Therapy target
	System Type Disorder Pubmed cancer     could represent new targets for anti-tumoral therapy

ANIMAL & CELL MODELS

	bovine chondrodysplastic dwarfism
	Evc2-/- mice develop a short-rib skeletal dysplasia resembling EvC due to diminished activity of the Ihh pathway in the growth plate